Canonical Allele Identifier: CA7869794

Gene: CREBBP

Linked Data

• dbSNP Id: rs55867523
• ExAC: 16:3807814 C / T
• gnomAD v2: 16-3807814-C-T
• gnomAD v3: 16-3757813-C-T
• gnomAD v4: 16-3757813-C-T
• COSMIC: COSM4674649
• MyVariant Identifiers: chr16:g.3807814C>T (hg19) ; chr16:g.3757813C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757813C>T , CM000678.2:g.3757813C>T	GRCh38
NC_000016.9:g.3807814C>T , CM000678.1:g.3807814C>T	GRCh37
NC_000016.8:g.3747815C>T	NCBI36
NG_009873.1:g.127308G>A
NG_009873.2:g.127901G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3605G>A MANE Select	ENSP00000262367.5:p.Arg1202His
ENST00000262367.9:c.3605G>A	ENSP00000262367.5:p.Arg1202His
ENST00000382070.7:c.3491G>A	ENSP00000371502.3:p.Arg1164His
ENST00000570939.2:c.2210G>A	ENSP00000461002.2:p.Arg737His
NM_001079846.1:c.3491G>A	NP_001073315.1:p.Arg1164His
NM_004380.2:c.3605G>A	NP_004371.2:p.Arg1202His
XM_005255124.3:c.3560G>A	XP_005255181.1:p.Arg1187His
XM_005255125.3:c.3188G>A	XP_005255182.1:p.Arg1063His
XM_006720848.2:c.3605G>A	XP_006720911.1:p.Arg1202His
XM_011522380.1:c.3551G>A	XP_011520682.1:p.Arg1184His
XM_011522381.1:c.2852G>A	XP_011520683.1:p.Arg951His
XM_011522382.1:c.3605G>A	XP_011520684.1:p.Arg1202His
XM_005255124.4:c.3560G>A	XP_005255181.1:p.Arg1187His
XM_005255125.4:c.3188G>A	XP_005255182.1:p.Arg1063His
XM_006720848.3:c.3605G>A	XP_006720911.1:p.Arg1202His
XM_011522381.2:c.2852G>A	XP_011520683.1:p.Arg951His
XM_011522382.3:c.3605G>A	XP_011520684.1:p.Arg1202His
XM_017022944.1:c.3599G>A	XP_016878433.1:p.Arg1200His
NM_004380.3:c.3605G>A MANE Select	NP_004371.2:p.Arg1202His